The analysis of X-linked Alport syndrome caused by a novel COL4A5 gene aberrant splicing

Abstract Objective To analyze a novel splicing mutation site in COL4A5 gene in a Chinese X-linked Alport syndrome family, and to show the clinical symptoms in proband and his family, in order to provide a basis for the diagnosis and genetic counseling of the disease. Methods Proband's clinical data were collected from electronic medical records. The underlying genetic causes of AS patients were identified by the whole-exome sequencing (WES). Results The proband had developed hematuria since the age of 3 years old, which was aggravated without obvious inducement on February 2022, accompanied by foamy urine. Renal biopsy revealed mesangial proliferative lesions with ischemic sclerosis. The WES showed a novel nucleotide alteration, NM_000495.5 c.609 + 2T༞G, in COL4A5 gene intron 10 in the proband. This alteration was verified in his mother by the WES. Conclusion A novel COL4A5 gene intron aberrant splicing mutation site was identified. That extended the spectrum of mutations in the COL4A5 gene, and it would be valuable to understand more about the genotype-phenotype correlations.